Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants

C. Fusco, G. Nardella, A. Petracca, D. Ronchi, N. Paciello, M. Di Giacomo, S. Gambardella, S. Lanfranconi, S. Zampatti, L. D'Agruma, L. Micale, M. Castori

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)829-835
Number of pages7
JournalClinical Genetics
Volume99
Issue number6
DOIs
Publication statusPublished - 2021

Keywords

  • cerebral cavernous malformations
  • KRIT1
  • mRNA analysis
  • PDCD10
  • splicing

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